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. 2022 Jun 27;74(8):1440–1450. doi: 10.1002/art.42122

Figure 3.

Figure 3

Loss‐of‐function (LoF) variant in C4A and rare variants in C4 genes. A, Proportion of patients and healthy controls carrying the C4A LoF variant rs760602547. B, Proportion of the LoF variant rs760602547 among SSA/SSB autoantibody subgroups combined across the 3 systemic inflammatory autoimmune diseases and healthy controls. Patients (or SSA/SSB subgroups) and controls were grouped based on C4A copy number, and the size of points indicate the total number of individuals in each group with the specific C4A copy number. P values are based on logistic regression with interaction between C4A copy number and rs760602547. The LoF variant was only present among individuals with 1–4 C4A genes. C, Number of individuals carrying rare (present among <0.5% of all individuals) coding variants in ≥1 C4 gene (synonymous, n = 44; missense, n = 100). Variants present among 10–17 individuals have been combined. D, Number of C4 genes carrying a rare coding variant in each disease cohort. The number of variants in each disease group has been adjusted for total C4 copy number in order to account for lower copy number of C4 among patients with systemic inflammatory autoimmune diseases. See Figure 1 for other definitions. Color figure can be viewed in the online issue, which is available at http://onlinelibrary.wiley.com/doi/10.1002/art.42122/abstract.